{
    "disease_id": "DOID:0070113",
    "recommended_name": {
        "id": "DOID:0070113",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070113",
        "name": "Niemann-Pick disease type C1",
        "description": "A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC1 gene on chromosome 18q11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070113",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070113",
            "name": "NPC1",
            "description": ""
        },
        {
            "id": "MONDO:0009757",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009757",
            "name": "Niemann-Pick disease, type C1",
            "description": "Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein."
        },
        {
            "id": "MONDO:0009757",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009757",
            "name": "Niemann-Pick disease, type C1",
            "description": ""
        },
        {
            "id": "MONDO:0009757",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009757",
            "name": "type C1 Niemann-Pick disease",
            "description": ""
        },
        {
            "id": "MONDO:0009757",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009757",
            "name": "NPC1",
            "description": ""
        },
        {
            "id": "MONDO:0009757",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009757",
            "name": "Niemann-Pick disease type C1",
            "description": ""
        },
        {
            "id": "MIM:257220",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/257220",
            "name": "Niemann-Pick disease C1",
            "description": "Niemann-Pick disease C1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070113"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070113",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070113",
            "categories": []
        },
        {
            "id": "MONDO:0009757",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009757",
            "categories": []
        },
        {
            "id": "MIM:257220",
            "database": "MIM",
            "url": "https://www.omim.org/entry/257220",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A2R8Q2J0-1",
            "uniprot_ac": "A0A2R8Q2J0",
            "uniprot_id": "A0A2R8Q2J0_DANRE",
            "refseq_ac": "XP_005163715",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "NPC intracellular cholesterol transporter 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "npc1",
                    "type": "recommended"
                },
                {
                    "name": "im:7149020",
                    "type": "synonym"
                },
                {
                    "name": "npc1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb53a12",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc29a12",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A2R8Q2J0-1",
            "evidence": [
                {
                    "id": "0070113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070113"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35604-1",
            "uniprot_ac": "O35604",
            "uniprot_id": "NPC1_MOUSE",
            "refseq_ac": "NP_032746",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "NPC intracellular cholesterol transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "NPC intracellular cholesterol transporter 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "Niemann-Pick C1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Niemann-Pick type C1",
                    "type": "synonym"
                },
                {
                    "name": "niemann-Pick C1 protein",
                    "type": "synonym"
                },
                {
                    "name": "sphingomyelinosis",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Npc1",
                    "type": "recommended"
                },
                {
                    "name": "A430089E03Rik",
                    "type": "synonym"
                },
                {
                    "name": "D18Ertd139e",
                    "type": "synonym"
                },
                {
                    "name": "D18Ertd723e",
                    "type": "synonym"
                },
                {
                    "name": "Npc1",
                    "type": "synonym"
                },
                {
                    "name": "lcsd",
                    "type": "synonym"
                },
                {
                    "name": "nmf164",
                    "type": "synonym"
                },
                {
                    "name": "spm",
                    "type": "synonym"
                }
            ],
            "record_id": "O35604-1",
            "evidence": [
                {
                    "id": "0070113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070113"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6T3U4-1",
            "uniprot_ac": "Q6T3U4",
            "uniprot_id": "NPCL1_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "NPC1-like intracellular cholesterol transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "Niemann-Pick C1-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Npc1l1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Npc1l1",
                    "type": "recommended"
                }
            ],
            "record_id": "Q6T3U4-1",
            "evidence": [
                {
                    "id": "0070113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070113"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15118-1",
            "uniprot_ac": "O15118",
            "uniprot_id": "NPC1_HUMAN",
            "refseq_ac": "NP_000262",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "NPC intracellular cholesterol transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "NPC intracellular cholesterol transporter 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "Niemann-Pick C1 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NPC1",
                    "type": "recommended"
                },
                {
                    "name": "NPC1",
                    "type": "synonym"
                },
                {
                    "name": "NPC",
                    "type": "synonym"
                },
                {
                    "name": "POGZ",
                    "type": "synonym"
                },
                {
                    "name": "SLC65A1",
                    "type": "synonym"
                }
            ],
            "record_id": "O15118-1",
            "evidence": [
                {
                    "id": "0009757",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0009757"
                },
                {
                    "id": "257220",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/257220"
                },
                {
                    "id": "0070113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070113"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12200-1",
            "uniprot_ac": "Q12200",
            "uniprot_id": "NPC1_YEAST",
            "refseq_ac": "NP_015319",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "NPC intracellular sterol transporter 1-related protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Niemann-Pick type C-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "sphingolipid transporter",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NCR1",
                    "type": "recommended"
                },
                {
                    "name": "NCR1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12200-1",
            "evidence": [
                {
                    "id": "0070113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070113"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V7K5-1",
            "uniprot_ac": "G3V7K5",
            "uniprot_id": "G3V7K5_RAT",
            "refseq_ac": "NP_705888",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "NPC intracellular cholesterol transporter 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "NPC intracellular cholesterol transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "Niemann-Pick disease, type C1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 66 member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Npc1",
                    "type": "recommended"
                },
                {
                    "name": "Cdig2",
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                },
                {
                    "name": "Npc1",
                    "type": "synonym"
                },
                {
                    "name": "SLC66A1",
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                }
            ],
            "record_id": "G3V7K5-1",
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                {
                    "id": "0070113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070113"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6T3U3-1",
            "uniprot_ac": "Q6T3U3",
            "uniprot_id": "NPCL1_RAT",
            "refseq_ac": "NP_001002025",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "NPC1-like intracellular cholesterol transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "NPC1 (Niemann-Pick disease, type C1, gene)-like 1",
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                },
                {
                    "name": "NPC1-like 1",
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                {
                    "name": "NPC1-like intracellular cholesterol transporter 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "Niemann-Pick C1-like protein 1",
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                },
                {
                    "name": "Niemann-Pick disease, type C1-like 1",
                    "type": "synonym"
                },
                {
                    "name": "Npc1l1",
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                {
                    "name": "solute carrier family 66 member 2",
                    "type": "synonym"
                }
            ],
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                    "name": "Npc1l1",
                    "type": "recommended"
                },
                {
                    "name": "Npc1l1",
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                {
                    "name": "SLC66A2",
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                }
            ],
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                    "id": "0070113",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0070113"
                }
            ]
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            "uniprot_canonical_ac": "Q9VRC9-1",
            "uniprot_ac": "Q9VRC9",
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                {
                    "name": "Drosophila melanogaster",
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                    "common_name": "Fruit fly",
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "NPC intracellular cholesterol transporter 1 homolog 1b",
                    "type": "recommended"
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                {
                    "name": "CG12092-PA",
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                },
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                    "name": "NPC1b",
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                },
                {
                    "name": "Niemann-Pick type protein homolog 1b",
                    "type": "synonym"
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                {
                    "name": "Niemann-Pick",
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                },
                {
                    "name": "Npc1b-PA",
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                },
                {
                    "name": "lethal (1) 19Ec",
                    "type": "synonym"
                },
                {
                    "name": "section 4",
                    "type": "synonym"
                },
                {
                    "name": "section 7",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Npc1b",
                    "type": "recommended"
                },
                {
                    "name": "151",
                    "type": "synonym"
                },
                {
                    "name": "4",
                    "type": "synonym"
                },
                {
                    "name": "7",
                    "type": "synonym"
                },
                {
                    "name": "AF2/19",
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                },
                {
                    "name": "CG12092",
                    "type": "synonym"
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                    "name": "Dmel\\CG12092",
                    "type": "synonym"
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                {
                    "name": "NPC1b",
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                },
                {
                    "name": "Npc1b",
                    "type": "synonym"
                },
                {
                    "name": "Q256",
                    "type": "synonym"
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                {
                    "name": "R-9-28",
                    "type": "synonym"
                },
                {
                    "name": "R9-28",
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                },
                {
                    "name": "dncp1b",
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                },
                {
                    "name": "dnpc1b",
                    "type": "synonym"
                },
                {
                    "name": "l(1)19Ec",
                    "type": "synonym"
                },
                {
                    "name": "l(1)2-3",
                    "type": "synonym"
                },
                {
                    "name": "l(1)R-9-28",
                    "type": "synonym"
                },
                {
                    "name": "l151",
                    "type": "synonym"
                },
                {
                    "name": "l152",
                    "type": "synonym"
                },
                {
                    "name": "lN5",
                    "type": "synonym"
                },
                {
                    "name": "lt2-14a",
                    "type": "synonym"
                },
                {
                    "name": "npc1b",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0070113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070113"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VL24-1",
            "uniprot_ac": "Q9VL24",
            "uniprot_id": "Q9VL24_DROME",
            "refseq_ac": "NP_001188769",
            "glycoprotein": "no",
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                {
                    "name": "Drosophila melanogaster",
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "CG5722-PB",
                    "type": "synonym"
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                {
                    "name": "Niemann-Pick type C-1a, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Niemann-Pick type C-1a, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Niemann-Pick type C-1a, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Niemann-Pick type C-1a, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "Niemann-Pick type C-1",
                    "type": "synonym"
                },
                {
                    "name": "Npc1a-PB",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Npc1a",
                    "type": "recommended"
                },
                {
                    "name": "CG5722",
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                {
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                    "name": "Dmel\\CG5722",
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                    "name": "Dmel_CG5722",
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                    "name": "NPC1a",
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                    "name": "NPC1",
                    "type": "synonym"
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                    "name": "Npc1_Dm",
                    "type": "synonym"
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                    "name": "Npc1a",
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                },
                {
                    "name": "Npc1",
                    "type": "synonym"
                },
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                    "name": "dNPC1a",
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                },
                {
                    "name": "dNPC1",
                    "type": "synonym"
                },
                {
                    "name": "dmNPC1",
                    "type": "synonym"
                },
                {
                    "name": "dncp1a",
                    "type": "synonym"
                },
                {
                    "name": "dnpc1a",
                    "type": "synonym"
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                {
                    "name": "npc1a",
                    "type": "synonym"
                },
                {
                    "name": "npc1",
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                }
            ],
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                {
                    "id": "0070113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070113"
                }
            ]
        },
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            "uniprot_canonical_ac": "Q9UHC9-1",
            "uniprot_ac": "Q9UHC9",
            "uniprot_id": "NPCL1_HUMAN",
            "refseq_ac": "NP_001095118",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "NPC1-like intracellular cholesterol transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "NPC1 (Niemann-Pick disease, type C1, gene)-like 1",
                    "type": "synonym"
                },
                {
                    "name": "NPC1 like 1",
                    "type": "synonym"
                },
                {
                    "name": "NPC1-like intracellular cholesterol transporter 1 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "NPC1L1",
                    "type": "synonym"
                },
                {
                    "name": "Niemann-Pick C1-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "niemann-Pick C1-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NPC1L1",
                    "type": "recommended"
                },
                {
                    "name": "LDLCQ7",
                    "type": "synonym"
                },
                {
                    "name": "NPC11L1",
                    "type": "synonym"
                },
                {
                    "name": "NPC1L1",
                    "type": "synonym"
                },
                {
                    "name": "SLC65A2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UHC9-1",
            "evidence": [
                {
                    "id": "0070113",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070113"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070113"
}